Canonical Allele Identifier: CA351413097

Gene: D2HGDH

Linked Data

• MyVariant Identifiers: chr2:g.242707196C>A (hg19) ; chr2:g.241767781C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767781C>A , CM000664.2:g.241767781C>A	GRCh38
NC_000002.11:g.242707196C>A , CM000664.1:g.242707196C>A	GRCh37
NC_000002.10:g.242355869C>A	NCBI36
NG_012012.1:g.38167C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1378C>A MANE Select	ENSP00000315351.4:p.His460Asn
ENST00000321264.8:c.1378C>A	ENSP00000315351.4:p.His460Asn
ENST00000400769.6:c.*128C>A	ENSP00000383580.2:n.*128C>A
ENST00000403782.5:c.976C>A	ENSP00000384723.1:p.His326Asn
ENST00000436747.5:c.*2614C>A	ENSP00000400212.1:n.*2614C>A
ENST00000445308.1:c.774C>A
ENST00000468064.5:n.1268C>A
ENST00000470343.5:n.859C>A
ENST00000473126.1:n.577C>A
ENST00000486953.5:n.1202C>A
ENST00000610344.1:c.*222C>A	ENSP00000481906.1:n.*222C>A
NM_001287249.1:c.976C>A	NP_001274178.1:p.His326Asn
NM_152783.4:c.1378C>A	NP_689996.4:p.His460Asn
NR_109778.1:n.1300C>A
XM_011511734.1:c.1498C>A	XP_011510036.1:p.His500Asn
XM_011511735.1:c.1456C>A	XP_011510037.1:p.His486Asn
XM_011511736.1:c.1420C>A	XP_011510038.1:p.His474Asn
XM_011511744.1:c.*110C>A	XP_011510046.1:n.*110C>A
XM_011511750.1:c.*45C>A	XP_011510052.1:n.*45C>A
XM_011511754.1:c.937C>A	XP_011510056.1:p.His313Asn
XM_011511755.1:c.928C>A	XP_011510057.1:p.His310Asn
XM_011511756.1:c.925C>A	XP_011510058.1:p.His309Asn
XR_923004.1:n.2010C>A
XR_923007.1:n.1720C>A
XR_923011.1:n.1821C>A
NM_001352824.1:c.817C>A	NP_001339753.1:p.His273Asn
XM_011511734.2:c.1498C>A	XP_011510036.1:p.His500Asn
XM_011511735.2:c.1456C>A	XP_011510037.1:p.His486Asn
XM_011511736.2:c.1420C>A	XP_011510038.1:p.His474Asn
XM_011511744.2:c.*110C>A	XP_011510046.1:n.*110C>A
XM_011511750.3:c.*45C>A	XP_011510052.1:n.*45C>A
XM_011511756.2:c.925C>A	XP_011510058.1:p.His309Asn
XM_024453102.1:c.1270C>A	XP_024308870.1:p.His424Asn
XR_001738918.2:n.1752C>A
XR_001738919.2:n.1686C>A
XR_923004.3:n.2009C>A
XR_923007.3:n.1719C>A
XR_923011.3:n.1820C>A
NM_152783.5:c.1378C>A MANE Select	NP_689996.4:p.His460Asn
NM_001287249.2:c.976C>A	NP_001274178.1:p.His326Asn
NM_001352824.2:c.817C>A	NP_001339753.1:p.His273Asn
NR_109778.2:n.1249C>A